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Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2016, Volume 29, Issue 9, pp. 1111 - 1114
Journal Article
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 20
Journal Article
Facial plastic surgery : FPS, ISSN 0736-6825, 02/2019, Volume 35, Issue 1, pp. 111 - 112
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 20
SHOX (Short Stature Homeobox) which is located at Xp22.33 is evolutionary well-conserved developmental gene expressed in osteogenic cells. SHOX is one of the... 
Genetic counseling | Genetic disorders | Genes | Chromosomes
Journal Article
Scandinavian journal of immunology, 12/2018, p. e12737
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the... 
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2015, Volume 60, Issue 1, pp. 51 - 51
Correction to: Journal of Human Genetics (2015) 60, 1–9; doi:10.1038/jhg.2014.85; published online 9 October 2014 Since the advance online publication of this... 
Journal Article
Reproductive Biology, ISSN 1642-431X, 03/2020, Volume 20, Issue 1, pp. 42 - 47
Although the polymorphic heterochromatin regions of chromosomes (heteromorphisms) have been extensively studied for their phenotypic effects on humans,... 
Recurrent miscarriage | Chromosome | Heteromorphism | Infertility | Recurrent implantation failure
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 07/2007, Volume 16, Issue 3, pp. 209 - 210
Seckel syndrome is an autosomal recessive disease presenting with microcephalic dwarfism, mental retardation and facial and skeletal abnormalities. Morgagni... 
Seckel syndrome | Microcephalic dwarfism | Morgagni hernia | RETARDATION | microcephalic dwarfism | seckel syndrome | ANOMALIES | morgagni hernia | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Radiography | Humans | Hernia, Diaphragmatic - diagnostic imaging | Child, Preschool | Male | Syndrome | Hernia, Diaphragmatic - complications
Journal Article
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